Down syndrome research information

Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21...

Research of Down syndrome-related genes is based on studying the genes located on chromosome 21. In general, this leads to an overexpression of the genes...

This is a list of people with Down syndrome, a condition also known as Down's syndrome or trisomy 21. Down syndrome is a genetic disorder caused by the...

Down (18 November 1828 – 7 October 1896) was a British physician best known for his description of the genetic condition now known as Down syndrome,...

Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole (trisomy...

Wayback Machine Conor, WO (1999). "John Langdon Down: The Man and the Message". Down Syndrome Research and Practice. 6 (1): 19–24. doi:10.3104/perspectives...

to one or more individuals who have distinguished themselves in Down syndrome research. The prize has been given out every two years since 2000. The foundation...

Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal recessive lysosomal storage disease that primarily affects...

while those with three copies of chromosome 21 (trisomy 21) have Down syndrome. Researchers working on the Human Genome Project announced in May 2000 that...

refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so...

associated with the genetic disorder now known as Down syndrome. The obsolete term for a person with this syndrome was called a Mongolian idiot. In the 21st century...

" The term Mongoloid has had a second usage referencing people with Down syndrome, now generally regarded as highly offensive. Those affected were often...

Impostor syndrome, also known as impostor phenomenon or impostorism, is a psychological experience of intellectual and professional infraudulence. It is...

to study Down syndrome due to the close similarity in the genomes of mice and humans, and the prevalence of mice usage in laboratory research. Trisomy...

Her research considers DNA repair mechanisms and the regulation of crossing over during mammalian meiosis. She was awarded the National Down Syndrome Society...

OC (April 8, 1917 – July 30, 2013) was a Canadian scientist and Down syndrome researcher. Born in Vancouver, she initially studied English literature at...

Postural orthostatic tachycardia syndrome (POTS) is a condition characterized by an abnormally large increase in heart rate upon sitting up or standing...

Savant syndrome (/sæˈvɑːnt, səˈvɑːnt, ˈsævənt/) is a phenomenon where someone demonstrates exceptional aptitude in one domain, such as art or mathematics...

protein kinase: Neurobiological functions and Down syndrome implications". Advances in Down Syndrome Research. Journal of Neural Transmission Supplement...

Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a person's cells have only one X chromosome or are partially missing...

Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with...

was coined Fraccaro syndrome after the researcher. The symptoms of 49,XXXXY are slightly similar to those of Klinefelter syndrome and 48,XXXY, but they...

executive director of the Global Down Syndrome Foundation in Denver, Colorado. Whitten started the Global Down Syndrome Foundation along with her parents...

Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in...

Piriformis syndrome is a condition which is believed to result from nerve compression at the sciatic nerve by the piriformis muscle. It is a specific case...